Type 2 diabetes (T2D) has been the subject of numerous genetic studies in recent years which revealed associations of the disease with a large number of susceptibility loci. We hereby initiate the evaluation of T2D susceptibility loci in the Greek-Cypriot population by performing a replication case-control study. One thousand and eighteen individuals (528 T2D patients, 490 controls) were genotyped at 21 T2D susceptibility loci, using the allelic discrimination method. Statistically significant associations of T2D with five of the tested single nucleotide polymorphisms (SNPs) ( rs7901695, rs8050136, rs5015480, rs13266634 and rs4402960) were observed in this study population. Furthermore, 14 of the tested SNPs had odds ratios (ORs) in the same direction as the previously published studies, suggesting that these variants can potentially be used in the Greek-Cypriot population for predictive testing of T2D. In conclusion, our findings expand the genetic assessment of T2D susceptibility loci and reconfirm five of the worldwide established loci in a distinct, relatively small, newly investigated population.
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http://dx.doi.org/10.3390/genes8010016 | DOI Listing |
Neurobiol Dis
January 2025
Departments of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address:
The adenosine triphosphate-binding cassette transporter A7 (ABCA7) gene is ranked as one of the top susceptibility loci for Alzheimer's disease (AD). While ABCA7 mediates lipid transport across cellular membranes, ABCA7 loss of function has been shown to exacerbate amyloid-β (Aβ) pathology and compromise microglial function. Our family-based study uncovered an extremely rare ABCA7 p.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Entomology and Acarology, Luiz de Queiroz College of Agriculture (ESALQ), University of São Paulo (USP), Piracicaba, São Paulo, Brazil.
Insecticide resistance is a major problem in food production, environmental sustainability, and human health. The cotton bollworm Helicoverpa armigera is a globally distributed crop pest affecting over 300 crop species. H.
View Article and Find Full Text PDFRheumatology (Oxford)
January 2025
Department of Cell Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain.
Objectives: COVID-19 and systemic sclerosis (SSc) share multiple similarities in their clinical manifestations, alterations in immune response, and therapeutic options. These resemblances have also been identified in other immune-mediated inflammatory diseases where a common genetic component has been found. Thus, we decided to evaluate for the first time this shared genetic architecture with SSc.
View Article and Find Full Text PDFGene
January 2025
School of Public Health, North China University of Science and Technology, Tangshan, China; College of Life Sciences, North China University of Science and Technology, Tangshan, China; Hebei Key Laboratory of Occupational Health and Safety for Coal Industry, Tangshan, China. Electronic address:
Background: Genome-wide association studies (GWAS) have identified susceptibility loci for colorectal cancer (CRC), but the underlying mechanisms remain unclear. This study investigates functional genetic variants in promoter regions of Leucine Rich Repeat Containing 6 (LRRC6) at 8q24 and Myotubularin Related Protein 10 (MTMR10) at 15q13.3 and their association with CRC susceptibility.
View Article and Find Full Text PDFFront Genet
January 2025
Department of Neurology, West China Hospital of Sichuan University, Chengdu, China.
Background: Patent foramen ovale (PFO) is a congenital defect between the atria, resulting in abnormal hemodynamics. We conducted a genome-wide association study (GWAS) to identify common genetic variants associated with PFO.
Methods: We performed a whole genome sequencing in a discovery cohort of 3,227 unrelated Chinese participants screened for PFO via contrast transthoracic echocardiography (cTTE).
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